Associated Papers
Using Genetics for Glaucoma Screening and Risk Stratification: The LXXXII Edward Jackson Memorial Lecture.
Wiggs JL
American Journal of Ophthalmology, 2026
A novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucoma.
Anjum I et al.
Molecular Biology Reports, 2025
Congenital glaucoma prevention program-Evaluation of patient knowledge and acceptance of genetic screening.
Alizary A et al.
Journal of Genetic Counseling, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Natural Polymorphic Variants in the CYP450 Superfamily: A Review of Potential Structural Mechanisms and Functional Consequences.
Prost R et al.
International Journal of Molecular Sciences, 2025
Genetic Analysis of CYP1B1 and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma.
Elksne E et al.
Biomedicines, 2025
Intrinsic disorder in CYP1B1 and its implications in primary congenital glaucoma pathogenesis.
Sharma M et al.
Journal of Proteins and Proteomics, 2025
Heme-thiolate monooxygenase cytochrome P450 1B1, an old dog with many new tricks.
Kim JW et al.
Pharmacological Reviews, 2025
Insights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies.
Bolton EM et al.
Life (basel, Switzerland), 2025
CYP1B1 and MYOC Gene Analysis of Patients with Primary Congenital Glaucoma in the Cukurova Region of Türkiye.
Akbas AC et al.
Journal of Pediatric Genetics, 2024
Childhood glaucoma: Implications for genetic counselling.
Maxwell G et al.
Clinical Genetics, 2024
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
Al-Saei O et al.
Bmc Genomics, 2024
Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.
Bozkurt-Yozgatli T et al.
Bmc Medical Genomics, 2024
Exploring the Genetic Landscape of Childhood Glaucoma.
Pan Y et al.
Children (basel, Switzerland), 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Whole-exome screening for primary congenital glaucoma in Lebanon.
Makhoul NJ et al.
Ophthalmic Genetics, 2023
Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service.
Sahu A et al.
Indian Journal of Ophthalmology, 2023
Human Cytochrome P450 1, 2, 3 Families as Pharmacogenes with Emphases on Their Antimalarial and Antituberculosis Drugs and Prevalent African Alleles.
Chamboko CR et al.
International Journal of Molecular Sciences, 2023
Pharmacogenomic-guided dosing of fluoropyrimidines beyond DPYD: time for a polygenic algorithm?
Maslarinou A et al.
Frontiers in Pharmacology, 2023
Genetics and Glaucoma: the state of the art.
Tirendi S et al.
Frontiers in Medicine, 2023
Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas.
Basel-Salmon L et al.
Genetics in Medicine Open, 2023
Expanding the phenotypic spectrum of CYP1B1 associated primary congenital glaucoma.
Gupta V et al.
Clinical & Experimental Ophthalmology, 2022
Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran.
Zamani M et al.
Molecular Genetics and Genomics : Mgg, 2022
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
Geographical Variability in CYP1B1 Mutations in Primary Congenital Glaucoma.
Shah M et al.
Journal of Clinical Medicine, 2022
Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.
Jemmeih S et al.
Ophthalmic Epidemiology, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma.
Tehreem R et al.
Plos One, 2022
Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.
Shahid M et al.
Peerj, 2022